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KMID : 0918520170170030077
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Journal of the Korean Society of Inherited Metabolic Disease
2017 Volume.17 No. 3 p.77 ~ p.84
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10-year Analysis of Inherited Metabolic Diseases Diagnosed with Tandem Mass Spectrometr
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Lee Bo-Mi
Lee Ji-Yun
Lee Jeong-Ho
Kim Suk-Young
Kim Jong-Won
Min Won-Ki
Song Woon-Heung
Song Jung-Han
Woo Hang-Jae
Yoon Hye-Ran
Lee Yong-Wha
Choi Koue-Young
Choi Tae-Youn
Lee Dong-Hwan
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Abstract
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Purpose: From the early 1990's, use of Tandem mass spectrometry in neonatal screening test, made early stage detection of disorders that was not detectable by the previous methods of inspection. This research aims to evaluate the frequency of positive results in national neonatal screening test by Tandem mass spectrometry and its usefulness.
Methods: A designated organization for inherited metabolic disorder executed neonatal screening test on newborns using Tandem mass spectrometry from January 2006 to December 2015, followed by the investigation of these data by the Planned Population Federation of Korea (PPFK), and this research analyzed those inspected data from the PPFK.
Results: Among total childbirth of 4,590,606, from January 2006 to December 2015, 3,445,238 were selected for MS/MS and conduction rate was 75.1%. 261 out of the selected 3,445,238 were confirmed patients and for last decade, detection rate of total metabolic disorder was 1/13,205. In 261 confirmed patients, 120 had an amino acid metabolic disorder and its detection rate was 1/28,710 and 110 had an organic acid metabolic disorder and detection rate was 1/31,320. Also, 31 had a fatty acid metabolic disorder and detection rate was 1/13,205.
Conclusion: Inherited metabolic disorder is very rare. Until now, it was difficult to precisely grasp an understanding on the national incidence of inherited metabolic disorder, due to lack of overall data and inconsistent and incomplete long-term result analysis. However, this research attempted to comprehensively approach the domestic incidence, by analyzing previous 10 years of data.
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KEYWORD
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Tandem mass spectrometry, Metabolism, Inborn errors
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